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The Generalized Aminoaciduria Seen in Patients With Hepatocyte Nuclear Factor-1α Mutations Is a Feature of All Patients With Diabetes and Is Associated With...
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urias and the less specific, generalized aminoaciduria; ...... was a generalized aminoaciduria as well as the excretion of large quantities of...
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Abstract and Introduction: Hepatocyte nuclear factor-1 alpha (HNF-1a) is a member of the homeodomain-containing superfamily of transcription factors The Generalized Aminoaciduria Seen in Patients With Hepatocyte Nuclear Factor-1 Alpha Mutations Is a Feature of All Patients With Diabetes and Is Associated With Glucosuria...
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Renal damage induced by cadmium (Cd) results in a proximal renal tubular dysfunction, characterized by low-molecular weight (LMW) proteinuria, renal glucosuria, generalized aminoaciduria and decreased renal tubular reabsorption of uric acid and phosphate. Arisawa K; Department of Preventive Medicine and Health Promotion,
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severe and 4 mild generalized aminoaciduria (Table. II). All 4 patients with vitamin D resistant had severe generalized aminoaciduria. 2 patients with...
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Excretion of amino acids in children with generalized aminoaciduria (mg. .... The generalized nature of the aminoaciduria is illustrated in Table III.
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The generalized aminoaciduria in magnesium deficient rats might be ex- plained on the basis of damage to the renal tubules by the luminal calcification,
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generalized amino-aciduria observed in other poisonings (Chisolm et al.s,. Ghadimi and Shwachman6 ). However, the amino acid excretion patterns of...
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We suggest that the generalized aminoaciduria accompanying FRG is a consequence of the severe impairment in glucose reabsorption, and is probably not directly related to the SGLT2 mutation. The exact role of the aberrant glucose transport in the pathogenesis of aminoaciduria remains to be established...
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Collectrin-deficient mice display a reduced urinary concentrating capacity due to enhanced solute clearance resulting from profound aminoaciduria. The aminoaciduria is generalized, characterized by loss of nearly every amino acid, and results in marked crystalluria.
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